We are currently focusing on the BRCA1 gene and its association with the breast cancer phenotype. Below, we load the variant file for the BRCA1 phenotype, sourced from Genebass: here
| variant_id | consequence | hgvsp | pval | beta | allele_count | homozygote_count | allele_number | allele_frequency | Protein |
|---|---|---|---|---|---|---|---|---|---|
| 17-43057062-T-TG | frameshift_variant | ENSP00000418960.2:p.Gln1777ProfsTer74 | 0.0000020 | 4.308528 | 13 | 0 | 735902 | 1.77e-05 | p.Gln1777ProfsTer74 |
| 17-43091771-TAGAC-T | frameshift_variant | ENSP00000418960.2:p.Ser1253ArgfsTer10 | 0.0000075 | 4.660549 | 9 | 0 | 735848 | 1.22e-05 | p.Ser1253ArgfsTer10 |
| 17-43092196-TCTTG-T | frameshift_variant | ENSP00000418960.2:p.Gln1111AsnfsTer5 | 0.0000232 | 3.497295 | 12 | 0 | 735894 | 1.63e-05 | p.Gln1111AsnfsTer5 |
| 17-43091462-CTTGA-C | frameshift_variant | ENSP00000418960.2:p.Asn1355LysfsTer10 | 0.0003945 | 2.642067 | 40 | 0 | 735922 | 5.44e-05 | p.Asn1355LysfsTer10 |
| 17-43092848-GTT-G | frameshift_variant | ENSP00000418960.2:p.Lys894ThrfsTer8 | 0.0019181 | 2.539163 | 21 | 0 | 735926 | 2.85e-05 | p.Lys894ThrfsTer8 |
| 17-43045767-G-A | stop_gained | ENSP00000418960.2:p.Arg1856Ter | 0.0019800 | 2.540251 | 14 | 0 | 735916 | 1.90e-05 | p.Arg1856Ter |
| gene | id | aapos | aaref | aaalt | ProteinChange | FUSE_score | norm_raw_score | FUSE_score_scaled_study | norm_raw_score_scaled_study | pos_score | raw_score | Transcript_hg38 | Transcript_hg38_ensembl | Protein_hg38 | Protein_hg38_ensembl | Gene_hg38_ensembl_gene | Uniprot_id | Variant.Type | Protein |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRCA1 | urn:mavedb:00000003-a-2 | 2 | D | A | BRCA1:p.Asp2Ala | -0.0774067 | -0.7624165 | 0.5423243 | 0.3948380 | -0.2364796 | -1.5464907 | NM_007294.3,NM_007300.3 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 | ENSG00000012048 | P38398 | missense | p.Asp2Ala |
| BRCA1 | urn:mavedb:00000003-a-2 | 2 | D | C | BRCA1:p.Asp2Cys | -0.1532701 | NA | 0.5312132 | NA | -0.2364796 | NA | NM_007294.3,NM_007300.3 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 | ENSG00000012048 | P38398 | missense | p.Asp2Cys |
| BRCA1 | urn:mavedb:00000003-a-2 | 2 | D | D | BRCA1:p.Asp2Asp | 0.4353967 | NA | 0.6174306 | NA | -0.2364796 | NA | NM_007294.3,NM_007300.3 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 | ENSG00000012048 | P38398 | synonymous | p.Asp2Asp |
| BRCA1 | urn:mavedb:00000003-a-2 | 2 | D | E | BRCA1:p.Asp2Glu | 0.1712392 | -0.2758819 | 0.5787415 | 0.4545809 | -0.2364796 | -0.9499942 | NM_007294.3,NM_007300.3 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 | ENSG00000012048 | P38398 | missense | p.Asp2Glu |
| BRCA1 | urn:mavedb:00000003-a-2 | 2 | D | F | BRCA1:p.Asp2Phe | -0.3428899 | NA | 0.5034411 | NA | -0.2364796 | NA | NM_007294.3,NM_007300.3 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 | ENSG00000012048 | P38398 | missense | p.Asp2Phe |
| BRCA1 | urn:mavedb:00000003-a-2 | 2 | D | G | BRCA1:p.Asp2Gly | -0.0562279 | -0.5176325 | 0.5454262 | 0.4248957 | -0.2364796 | -1.2463829 | NM_007294.3,NM_007300.3 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENST00000354071,ENST00000357654,ENST00000470026,ENST00000471181,ENST00000494123 | ENSP00000326002,ENSP00000350283,ENSP00000418960,ENSP00000419103,ENSP00000419274 | ENSG00000012048 | P38398 | missense | p.Asp2Gly |
Total proteins analyzed: 128.
The association between Mave raw score and Beta for BRCA1 Breast Cancer is weak and anti-correlated.
A similar weak correlation is observed between Mave normalized raw score and Beta for BRCA1 Breast Cancer.
The relationship between Mave Fuse score and Beta for BRCA1 Breast Cancer is weak and negatively correlated.
Similar correlation exists between Mave scaled study FUSE score and Beta for BRCA1 for Breast Cancer.